Hypotrichosis with juvenile macular degeneration

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY
HJMD
Hypotrichosis with juvenile macular dystrophy
Number of Symptoms 27
OrphanetNr: 1573
OMIM Id: 601553
ICD-10: Q84.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth 291 / 7739
2
 (HPO:0007663) Reduced visual acuity 100 / 7739
3
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
4
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
5
 (HPO:0007754) Macular dystrophy 26 / 7739
6
 (HPO:0008002) Abnormality of macular pigmentation Very frequent [Orphanet] 20 / 7739
7
 (HPO:0000618) Blindness 124 / 7739
8
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
9
 (HPO:0000505) Visual impairment 297 / 7739
10
 (HPO:0008059) Aplasia/Hypoplasia of the macula Very frequent [Orphanet] 21 / 7739
11
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
14
 (HPO:0001597) Abnormality of the nail 115 / 7739
15
 (HPO:0007587) Numerous pigmented freckles Occasional [Orphanet] 22 / 7739
16
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
17
 (HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
18
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
19
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
20
 (HPO:0003777) Pili torti Frequent [Orphanet] 24 / 7739
21
 (HPO:0100326) Immunologic hypersensitivity Occasional [Orphanet] 28 / 7739
22
 (OMIM) Progressive juvenile macular dystrophy (onset 3-21 years) 1 / 7739
23
 (OMIM) Fusiform beading of hair shaft 1 / 7739
24
 (OMIM) Normal teeth 15 / 7739
25
 (OMIM) Normal fingernails 2 / 7739
26
 (HPO:0040064) Abnormality of limbs Occasional [Orphanet] 16 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The association of juvenile macular dystrophy and congenital hypotrichosis was first described by Wagner (1935) in 2 sisters. Yasakura et al. (1967) also reported affected sibs. In a sporadic case presented by Kroll (1981), the parents were natives ...
Molecular genetics OMIM In affected members of 4 Druze families with HJMD, Sprecher et al. (2001) identified a homozygous deletion in exon 8 of the CDH3 gene (114021.0001). These findings implicated for the first time a cadherin molecule in the pathogenesis ...