Genetic Medicine conditions, page 4 of 5
20 conditions on this page, alphabetically from Primary ciliary dyskinesia 6 to Wiskott-Aldrich syndrome. Each entry below describes the condition in full.
On this page
Primary ciliary dyskinesia 6
Overview. A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. Weyland-Yutani Health System offers diagnosis and ongoing care for primary ciliary dyskinesia 6.
Also known as
Classification
Ontology identifier: DOID:0110606 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 610852
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, primary ciliary dyskinesia 6 is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about primary ciliary dyskinesia 6? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Primary ciliary dyskinesia 8
Overview. A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. Weyland-Yutani Health System offers diagnosis and ongoing care for primary ciliary dyskinesia 8.
Also known as
- CILD8
- primary ciliary dyskinesia 8 with or without situs inversus
Classification
Ontology identifier: DOID:0110616 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q34.8
- OMIM: 612274
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for primary ciliary dyskinesia 8. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about primary ciliary dyskinesia 8. Bring a list of current medications and any previous test results.
Reference links
Progressive osseous heteroplasia
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. Patients with progressive osseous heteroplasia are cared for through our Genetic Medicine service line.
Also known as
- ectopic ossification familial type
- familial ectopic ossification
- osteoma cutis
- POH
Classification
Ontology identifier: DOID:0111535 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C562735
- OMIM: 166350
- SNOMED CT: 404074003
Care at Weyland-Yutani Health System
Care for progressive osseous heteroplasia is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have progressive osseous heteroplasia, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Retinopathy sensory neuropathy syndrome
A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. Patients with retinopathy sensory neuropathy syndrome are cared for through our Genetic Medicine service line.
Also known as
- PCARP
- Posterior Column Ataxia with Retinitis Pigmentosa
- posterior column ataxia-retinitis pigmentosa syndrome
Classification
Ontology identifier: DOID:0061157 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C536343
- OMIM: 609033
- SNOMED CT: 724065003
Care at Weyland-Yutani Health System
Care for retinopathy sensory neuropathy syndrome is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about retinopathy sensory neuropathy syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Rhabdoid tumor predisposition syndrome
A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. Patients with rhabdoid tumor predisposition syndrome are cared for through our Genetic Medicine service line.
Also known as
- familial posterior fossa brain tumor syndrome of infancy
- rhabdoid predisposition syndrome
- RTPS
Classification
Ontology identifier: DOID:0070617 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- OMIM: PS609322
- SNOMED CT: 772130002
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, rhabdoid tumor predisposition syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about rhabdoid tumor predisposition syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Ring chromosome 20 syndrome
A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. Patients with ring chromosome 20 syndrome are cared for through our Genetic Medicine service line.
Also known as
- r(20) syndrome
- r20 syndrome
- ring 20 syndrome
- ring chromosome 20 epilepsy syndrome
Classification
Ontology identifier: DOID:0070622 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › ring chromosome syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: C580424
- SNOMED CT: 23686004
Care at Weyland-Yutani Health System
Care for ring chromosome 20 syndrome is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
Showing 15 of 19.
When to seek care
If you or a family member may have ring chromosome 20 syndrome, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Ring chromosome syndrome
A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. Our Genetic Medicine team evaluates and manages ring chromosome syndrome.
Also known as
Classification
Ontology identifier: DOID:0070620 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease.
Specialty: Genetic Medicine
Broader conditions
More specific conditions
Medical codes
- MeSH: D012303
- SNOMED CT: 23345003
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, ring chromosome syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about ring chromosome syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Schwartz-Jampel syndrome 1
A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. Our Genetic Medicine team evaluates and manages Schwartz-Jampel syndrome 1.
Also known as
- Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Catel-Hempel syndrome
- Catel-Hempel type dysostosis enchondralis metaepiphysaria
- myotonic chondrodystrophy
- myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- osteochondromuscular dystrophy
- Schwartz-Jampel syndrome type 1
- Schwartz-Jampel-Aberfeld syndrome
Classification
Ontology identifier: DOID:0090005 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: G71.1
- OMIM: 255800
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Schwartz-Jampel syndrome 1 is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have Schwartz-Jampel syndrome 1, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Septooptic dysplasia
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. This page summarizes how septooptic dysplasia is classified and the care available at Weyland-Yutani Health System.
Also known as
- De Morsier syndrome
- septo-optic dysplasia
- SOD
Classification
Ontology identifier: DOID:0060857 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D025962
- OMIM: 182230
- SNOMED CT: 204073006
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for septooptic dysplasia. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have septooptic dysplasia, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Stromme syndrome
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. Our Genetic Medicine team evaluates and manages Stromme syndrome.
Also known as
- apple peel syndrome with microcephaly and ocular anomalies
- CILD31
- jejunal atresia with microcephaly and ocular anomalies
- lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- primary ciliary dyskinesia 31
Classification
Ontology identifier: DOID:0110595 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › ciliopathy › primary ciliary dyskinesia.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.8
- OMIM: 243605
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Stromme syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Stromme syndrome. Bring a list of current medications and any previous test results.
Reference links
Usher syndrome
A syndrome characterized by a combination of hearing loss and visual impairment. This page summarizes how Usher syndrome is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:0050439 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Genetic Medicine
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q99.81
- ICD-10-CM: Q99.813
- MeSH: D052245
- OMIM: PS276900
- SNOMED CT: 1010610007
- SNOMED CT: 57838006
Care at Weyland-Yutani Health System
Care for Usher syndrome is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about Usher syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Usher syndrome type 1
In clinical terms, Usher syndrome type 1 is described as follows: an Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
Also known as
Classification
Ontology identifier: DOID:0110826 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Usher syndrome.
Specialty: Genetic Medicine
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q99.811
- OMIM: 276900
- SNOMED CT: 232057003
Care at Weyland-Yutani Health System
Care for Usher syndrome type 1 is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about Usher syndrome type 1? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Usher syndrome type 1E
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. This page summarizes how Usher syndrome type 1E is classified and the care available at Weyland-Yutani Health System.
Also known as
- USH1E
- Usher syndrome type IE
Classification
Ontology identifier: DOID:0110833 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Usher syndrome › Usher syndrome type 1.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- OMIM: 602097
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for Usher syndrome type 1E. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have Usher syndrome type 1E, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Usher syndrome type 1K
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. Our Genetic Medicine team evaluates and manages Usher syndrome type 1K.
Also known as
- USH1K
- Usher syndrome type IK
Classification
Ontology identifier: DOID:0110837 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Usher syndrome › Usher syndrome type 1.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- OMIM: 614990
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Usher syndrome type 1K is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have Usher syndrome type 1K, contact your primary care provider or schedule a visit with Genetic Medicine.
Reference links
Usher syndrome type 3A
An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. Our Genetic Medicine team evaluates and manages Usher syndrome type 3A.
Also known as
- USH3A
- Usher syndrome type IIIA
Classification
Ontology identifier: DOID:0110841 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Usher syndrome › Usher syndrome type 3.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- OMIM: 276902
Care at Weyland-Yutani Health System
Care for Usher syndrome type 3A is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about Usher syndrome type 3A? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Velocardiofacial syndrome
In clinical terms, velocardiofacial syndrome is described as follows: A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
Also known as
- Shprintzen syndrome
- VCF-Velocardiofacial syndrome
Classification
Ontology identifier: DOID:12583 (Human Disease Ontology).
Classification path: genetic disease › chromosomal disease › chromosomal deletion syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q93.81
- ICD-9-CM: 758.32
- MeSH: D004062
- OMIM: 192430
- SNOMED CT: 205642004
Care at Weyland-Yutani Health System
Genetic Medicine specialists lead care for velocardiofacial syndrome. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about velocardiofacial syndrome? Call your nearest Weyland-Yutani location and ask for Genetic Medicine.
Reference links
Warburg micro syndrome 4
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. Our Genetic Medicine team evaluates and manages Warburg micro syndrome 4.
Also known as
Classification
Ontology identifier: DOID:0110719 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › Warburg micro syndrome.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: Q87.0
- OMIM: 615663
Care at Weyland-Yutani Health System
Care for Warburg micro syndrome 4 is coordinated through Genetic Medicine. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Warburg micro syndrome 4. Bring a list of current medications and any previous test results.
Reference links
Weill-Marchesani syndrome
In clinical terms, Weill-Marchesani syndrome is described as follows: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
Also known as
- congenital mesodermal dystrophy
- GEMSS syndrome
- Marchesani-Weill Syndrome
- Mesodermal Dysmorphodystrophy, Congenital
- Spherophakia Brachymorphia Syndrome
Classification
Ontology identifier: DOID:0050475 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- MeSH: D056846
- OMIM: PS277600
- SNOMED CT: 205801004
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Weill-Marchesani syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about Weill-Marchesani syndrome. Bring a list of current medications and any previous test results.
Reference links
Wiskott-Aldrich syndrome
A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). Patients with Wiskott-Aldrich syndrome are cared for through our Genetic Medicine service line.
Also known as
Classification
Ontology identifier: DOID:9169 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › X-linked monogenic disease › X-linked recessive disease.
Specialty: Genetic Medicine
Broader conditions
Medical codes
- ICD-10-CM: D82.0
- ICD-9-CM: 279.12
- MeSH: D014923
- OMIM: 301000
- SNOMED CT: 36070007
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Wiskott-Aldrich syndrome is managed by Genetic Medicine with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about Wiskott-Aldrich syndrome. Bring a list of current medications and any previous test results.
Reference links