Autosomal recessive deafness-onychodystrophy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES
DRC SYNDROME
DIGITORENOCEREBRAL SYNDROME
ERONEN SYNDROME
DOORS
Deafness - onychodystrophy - osteodystrophy - intellectual deficit
door syndrome
Deafness - onycho-osteodystrophy - intellectual deficit
Number of Symptoms 50
OrphanetNr: 79500
OMIM Id: 220500
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Deafness - onychodystrophy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
2
 (HPO:0000800) Cystic renal dysplasia rare [HPO:skoehler] 31 / 7739
3
 (HPO:0000089) Renal hypoplasia 78 / 7739
4
 (HPO:0000104) Renal agenesis rare [HPO:skoehler] 68 / 7739
5
 (HPO:0002714) Downturned corners of mouth 98 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0001305) Dandy-Walker malformation rare [HPO:skoehler] 79 / 7739
8
 (HPO:0000463) Anteverted nares 305 / 7739
9
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
10
 (HPO:0000448) Prominent nose 56 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0000431) Wide nasal bridge 290 / 7739
13
 (HPO:0000343) Long philtrum 262 / 7739
14
 (HPO:0000280) Coarse facial features 189 / 7739
15
 (HPO:0000414) Bulbous nose 63 / 7739
16
 (HPO:0000648) Optic atrophy 238 / 7739
17
 (HPO:0000518) Cataract 454 / 7739
18
 (HPO:0000618) Blindness 124 / 7739
19
 (HPO:0011003) Severe Myopia 31 / 7739
20
 (HPO:0011476) Profound sensorineural hearing impairment 7 / 7739
21
 (HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
23
 (HPO:0000369) Low-set ears 372 / 7739
24
 (HPO:0001250) Seizures 1245 / 7739
25
 (HPO:0001265) Hyporeflexia 208 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
28
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
29
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
30
 (HPO:0002164) Nail dysplasia 82 / 7739
31
 (HPO:0008404) Nail dystrophy 89 / 7739
32
 (HPO:0001798) Anonychia 28 / 7739
33
 (HPO:0000951) Abnormality of the skin 147 / 7739
34
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
35
 (HPO:0001324) Muscle weakness 859 / 7739
36
 (HPO:0010547) Muscle flaccidity 466 / 7739
37
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
38
 (HPO:0001252) Muscular hypotonia 990 / 7739
39
 (OMIM) Thick everted lower lip (deletion patients) 4 / 7739
40
 (HPO:0001199) Triphalangeal thumb 56 / 7739
41
 (HPO:0002059) Cerebral atrophy 171 / 7739
42
 (OMIM) Narrow bifrontal diameter 2 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (OMIM) Increased serum and urinary 2-oxoglutarate 1 / 7739
45
 (HPO:0002119) Ventriculomegaly 253 / 7739
46
 (OMIM) Peripheral polyneuropathy 2 / 7739
47
 (OMIM) Small or absent nails on the hands and feet 1 / 7739
48
 (HPO:0003676) Progressive disorder 148 / 7739
49
 (HPO:0030680) Abnormality of cardiovascular system morphology rare [HPO:skoehler] 355 / 7739
50
 (OMIM) Deafness, profound, sensorineural 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.

See ...
Clinical Description OMIM Walbaum et al. (1970) described a brother and sister with mental retardation, perceptive deafness, dysplasia of the fingernails, triphalangeal thumbs, hypoplasia of the terminal phalanges, and 'decapsalidic' fingerprints, i.e., an arch pattern on each finger. The patient reported ...
Molecular genetics OMIM In 11 affected individuals from 9 unrelated families with deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome, Campeau et al. (2013) identified homozygous or compound heterozygous mutations in the TBC1D24 gene (see, e.g., 613577.0007-613577.0011). The mutations in the ...