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Congenital hypotrichosis with juvenile macular dystrophy(HJMD)

MedGen UID:
316921
•Concept ID:
C1832162
•
Disease or Syndrome
Synonyms: HJMD; HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY; Juvenile macular degeneration and hypotrichosis; Juvenile macular dystrophy and congenital hypotrichosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CDH3 (16q22.1)
 
Monarch Initiative: MONDO:0011107
OMIM®: 601553
Orphanet: ORPHA1573

Definition

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. [from ORDO]

Clinical features

From HPO
Pili torti
MedGen UID:
82670
•Concept ID:
C0263491
•
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
See: Feature record | Search on this feature
Reduced terminal:vellus ratio
MedGen UID:
1706135
•Concept ID:
C5139385
•
Finding
A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.
See: Feature record | Search on this feature
Sparse hair
MedGen UID:
1790211
•Concept ID:
C5551005
•
Finding
Reduced density of hairs.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Blindness
MedGen UID:
99138
•Concept ID:
C0456909
•
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
See: Feature record | Search on this feature
Macular dystrophy
MedGen UID:
196451
•Concept ID:
C0730292
•
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hypotrichosis with juvenile macular dystrophy
Follow this link to review classifications for Congenital hypotrichosis with juvenile macular dystrophy in Orphanet.

Recent clinical studies

Diagnosis

The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.
Hayashi T, Katagiri S, Kubota D, Mizobuchi K, Ishiuji Y, Asahina A, Kameya S, Nakano T
Mol Genet Genomic Med 2021 Jun;9(6):e1688. Epub 2021 Apr 9 doi: 10.1002/mgg3.1688. PMID: 33837674Free PMC Article
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E
Ophthalmic Res 2020;63(2):141-151. Epub 2020 Jan 10 doi: 10.1159/000504757. PMID: 31927556
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
Blanco-Kelly F, Rodrigues-Jacy da Silva L, Sanchez-Navarro I, Riveiro-Alvarez R, Lopez-Martinez MA, Corton M, Ayuso C
BMC Med Genet 2017 Jan 7;18(1):1. doi: 10.1186/s12881-016-0364-5. PMID: 28061825Free PMC Article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR
JAMA Ophthalmol 2016 Sep 1;134(9):992-1000. doi: 10.1001/jamaophthalmol.2016.2089. PMID: 27386845
Do you know this syndrome?
Frainer RH, Abreu LB, Pinto GM, Carvalho AV, Meneghello LP
An Bras Dermatol 2013 Jan-Feb;88(1):135-7. doi: 10.1590/s0365-05962013000100023. PMID: 23539021Free PMC Article

Prognosis

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J
Mol Genet Genomic Med 2019 Nov;7(11):e975. Epub 2019 Sep 27 doi: 10.1002/mgg3.975. PMID: 31560841Free PMC Article
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E
Br J Dermatol 2005 Sep;153(3):635-8. doi: 10.1111/j.1365-2133.2005.06734.x. PMID: 16120155

Clinical prediction guides

Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E
Ophthalmic Res 2020;63(2):141-151. Epub 2020 Jan 10 doi: 10.1159/000504757. PMID: 31927556
Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J
Mol Genet Genomic Med 2019 Nov;7(11):e975. Epub 2019 Sep 27 doi: 10.1002/mgg3.975. PMID: 31560841Free PMC Article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR
JAMA Ophthalmol 2016 Sep 1;134(9):992-1000. doi: 10.1001/jamaophthalmol.2016.2089. PMID: 27386845
P-cadherin promotes cell-cell adhesion and counteracts invasion in human melanoma.
Van Marck V, Stove C, Van Den Bossche K, Stove V, Paredes J, Vander Haeghen Y, Bracke M
Cancer Res 2005 Oct 1;65(19):8774-83. doi: 10.1158/0008-5472.CAN-04-4414. PMID: 16204047
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E
Br J Dermatol 2005 Sep;153(3):635-8. doi: 10.1111/j.1365-2133.2005.06734.x. PMID: 16120155

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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