Hypotrichosis With Juvenile Macular Degeneration

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Genes related to Hypotrichosis With Juvenile Macular Degeneration

CDH3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotrichosis With Juvenile Macular Degeneration

Short stature
Nystagmus
Blindness
Abnormality of the dentition
Alopecia
Hyperkeratosis
Reduced visual acuity
Skeletal dysplasia
Sparse hair
Hypotrichosis

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Hypotrichosis With Juvenile Macular Degeneration Is also known as hypotrichosis with juvenile macular dystrophy, hypotrichosis with cone-rod dystrophy, hjmd.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hypotrichosis With Juvenile Macular Degeneration Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macular Degeneration Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...) View the complete list with 4 more genes Panel complete gene list RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1, CHST6, OTX2, PROM1, PRPH2 Specificity 5 % Genes 100 %
CDH3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CDH3 Specificity 100 % Genes 100 %
Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene). By CGC Genetics (Portugal). CDH3 Specificity 100 % Genes 100 %
Stargardt disease and macular distrophy (NGS panel for 14 genes). By CGC Genetics (Portugal). RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RDH12, CNGB3, ABCA4, FSCN2, IMPG1, PROM1, PRPH2 Specificity 8 % Genes 100 %
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene). By CGC Genetics (Portugal). CDH3 Specificity 100 % Genes 100 %
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene). By CGC Genetics (Portugal). CDH3 Specificity 100 % Genes 100 %
Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene). By CGC Genetics (Portugal). CDH3 Specificity 100 % Genes 100 %
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene). By CGC Genetics (Portugal). CDH3 Specificity 100 % Genes 100 %

You can get up to 34 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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