Primary hypergonadotropic hypogonadism - partial alopecia

General Information (adopted from Orphanet):

Synonyms, Signs: Al Awadi-Farag-Teebi syndrome
Number of Symptoms 17
OrphanetNr: 2232
OMIM Id: 241090
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000137) Abnormality of the ovary Frequent [Orphanet] 41 / 7739
2
(HPO:0010464) Streak ovary 8 / 7739
3
(HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
4
(HPO:0000135) Hypogonadism 89 / 7739
5
(HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
6
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
7
(HPO:0001362) Calvarial skull defect Very frequent [Orphanet] 22 / 7739
8
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
9
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
10
(HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
11
(HPO:0001596) Alopecia 162 / 7739
12
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Central scalp alopecia 1 / 7739
15
(OMIM) Germinal cell aplasia 1 / 7739
16
(OMIM) Alopecia, partial 4 / 7739
17
(OMIM) Absent gonads 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 sisters and a brother, born of Jordanian parents related as first cousins once removed, Al-Awadi et al. (1985) observed hypergonadotropic hypogonadism and partial alopecia (head hair only in the center of the scalp). One sister had ...