Cataract, and Bronchiectasis

Medium match USHER SYNDROME TYPE 1

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Ataxia
• Sensorineural hearing impairment

SOURCES: OMIM ORPHANET MENDELIAN

Medium match IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1

Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 Is also known as bls, type i|bare lymphocyte syndrome type 1|hla class i deficiency

• Diarrhea
• Immunodeficiency
• Abnormal lung morphology
• Bronchiectasis
• Skin ulcer

SOURCES: OMIM ORPHANET MENDELIAN

Medium match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

• Seizures
• Pain
• Cataract
• Anemia
• Visual impairment

SOURCES: ORPHANET OMIM MENDELIAN

Low match HERMANSKY-PUDLAK SYNDROME 4; HPS4

Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

• Nystagmus
• Visual impairment
• Respiratory distress
• Reduced visual acuity
• Bruising susceptibility

SOURCES: OMIM MENDELIAN

Low match PRIMARY CILIARY DYSKINESIA

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

• Hearing impairment
• Ventriculomegaly
• Respiratory distress
• Hydrocephalus
• Headache

SOURCES: ORPHANET OMIM MENDELIAN

Low match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

• Intellectual disability
• Seizures
• Global developmental delay
• Failure to thrive
• Visual impairment

SOURCES: OMIM MENDELIAN

Low match CATARACT 36; CTRCT36

CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

• Cataract

SOURCES: OMIM MENDELIAN

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

• Cataract
• Abnormality of metabolism/homeostasis

SOURCES: ORPHANET MENDELIAN

Low match BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 Is also known as cystic fibrosis-like syndrome

• Bronchiectasis
• Chronic bronchitis

SOURCES: MESH OMIM MENDELIAN

Low match SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION

Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.

SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION Is also known as familial cd8 deficiency

• Recurrent respiratory infections
• Bronchiectasis
• Recurrent bacterial infections
• Recurrent viral infections
• Absence of CD8-positive T cells

SOURCES: OMIM MESH ORPHANET MENDELIAN