MCID: HYP685
MIFTS: 20

Hypergonadotropic Hypogonadism and Partial Alopecia

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypergonadotropic Hypogonadism and Partial Alopecia

MalaCards integrated aliases for Hypergonadotropic Hypogonadism and Partial Alopecia:

Name: Hypergonadotropic Hypogonadism and Partial Alopecia 56 29
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome 58
Al Awadi-Farag-Teebi Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
primary hypergonadotropic hypogonadism-partial alopecia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypergonadotropic hypogonadism and partial alopecia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Hypergonadotropic Hypogonadism and Partial Alopecia

MalaCards based summary : Hypergonadotropic Hypogonadism and Partial Alopecia, is also known as primary hypergonadotropic hypogonadism-partial alopecia syndrome. Affiliated tissues include ovary, bone and breast, and related phenotypes are hypergonadotropic hypogonadism and primary gonadal insufficiency

More information from OMIM: 241090

Related Diseases for Hypergonadotropic Hypogonadism and Partial Alopecia

Symptoms & Phenotypes for Hypergonadotropic Hypogonadism and Partial Alopecia

Human phenotypes related to Hypergonadotropic Hypogonadism and Partial Alopecia:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypergonadotropic hypogonadism 58 31 obligate (100%) Obligate (100%) HP:0000815
2 primary gonadal insufficiency 58 31 obligate (100%) Obligate (100%) HP:0008193
3 alopecia of scalp 58 31 obligate (100%) Obligate (100%) HP:0002293
4 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
7 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
8 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
9 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
10 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
11 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
12 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
13 impotence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000802
14 aplasia/hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0008684
15 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
16 streak ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0010464
17 breast hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003187
18 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
19 non-obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011961
20 marked delay in bone age 58 31 hallmark (90%) Very frequent (99-80%) HP:0003799
21 sparse facial hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0007464
22 aplasia of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0010463
23 decreased serum testosterone level 31 hallmark (90%) HP:0040171
24 agonadism 31 hallmark (90%) HP:0008633
25 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
26 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
27 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
28 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
29 sparse pubic hair 58 31 frequent (33%) Frequent (79-30%) HP:0002225
30 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
31 sparse and thin eyebrow 31 frequent (33%) HP:0000535
32 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
33 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
34 thenar muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003393
35 small hypothenar eminence 58 31 occasional (7.5%) Occasional (29-5%) HP:0010487
36 contracture of the proximal interphalangeal joint of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009185
37 small pituitary gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0012506
38 decreased palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0006184
39 alopecia 58 31 Very frequent (99-80%) HP:0001596
40 growth delay 58 Very frequent (99-80%)
41 abnormality of the eyebrow 58 Very frequent (99-80%)
42 sparse eyebrow 58 Frequent (79-30%)
43 absent gonadal tissue 58 Very frequent (99-80%)
44 decreased testosterone in males 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
G U:
hypogonadism
germinal cell aplasia
streak ovaries
absent gonads

Hair:
partial alopecia
central scalp alopecia

Clinical features from OMIM:

241090

Drugs & Therapeutics for Hypergonadotropic Hypogonadism and Partial Alopecia

Search Clinical Trials , NIH Clinical Center for Hypergonadotropic Hypogonadism and Partial Alopecia

Genetic Tests for Hypergonadotropic Hypogonadism and Partial Alopecia

Genetic tests related to Hypergonadotropic Hypogonadism and Partial Alopecia:

# Genetic test Affiliating Genes
1 Hypergonadotropic Hypogonadism and Partial Alopecia 29

Anatomical Context for Hypergonadotropic Hypogonadism and Partial Alopecia

MalaCards organs/tissues related to Hypergonadotropic Hypogonadism and Partial Alopecia:

40
Ovary, Bone, Breast, Uterus, Pituitary

Publications for Hypergonadotropic Hypogonadism and Partial Alopecia

Articles related to Hypergonadotropic Hypogonadism and Partial Alopecia:

# Title Authors PMID Year
1
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review. 56
19213036 2009
2
Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings. 56
12749067 2003
3
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. 56
4061495 1985

Variations for Hypergonadotropic Hypogonadism and Partial Alopecia

Expression for Hypergonadotropic Hypogonadism and Partial Alopecia

Search GEO for disease gene expression data for Hypergonadotropic Hypogonadism and Partial Alopecia.

Pathways for Hypergonadotropic Hypogonadism and Partial Alopecia

GO Terms for Hypergonadotropic Hypogonadism and Partial Alopecia

Sources for Hypergonadotropic Hypogonadism and Partial Alopecia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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