Alopecia - epilepsy - pyorrhea - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: shokeir syndrome
Alopecia - epilepsy - pyorrhea - mental subnormality
Number of Symptoms 23
OrphanetNr: 1008
OMIM Id: 104130
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
2
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
3
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
4
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
5
 (HPO:0000704) Periodontitis 24 / 7739
6
 (HPO:0000230) Gingivitis Very frequent [Orphanet] 31 / 7739
7
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
8
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
9
 (HPO:0001256) Intellectual disability, mild 141 / 7739
10
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
11
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
 (HPO:0002354) Memory impairment Very frequent [Orphanet] 63 / 7739
13
 (HPO:0005597) Congenital alopecia totalis 1 / 7739
14
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
15
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
16
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
17
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
18
 (HPO:0002289) Alopecia universalis 20 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
21
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
22
 (OMIM) Alopecia universalis, congenital 1 / 7739
23
 (MedDRA:10037214) Psychomotor seizures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shokeir (1977) reported a 4-generation family in which 12 individuals had alopecia universalis and dental pyorrhea resulting in tooth loss. Eight individuals, all in the last 2 generations, also had psychomotor epilepsy and peridontal pyorrhea, and 7 had ...