MCID: HYP685
MIFTS: 21

Hypergonadotropic Hypogonadism and Partial Alopecia

Categories: Endocrine diseases, Rare diseases, Reproductive diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hypergonadotropic Hypogonadism and Partial Alopecia

MalaCards integrated aliases for Hypergonadotropic Hypogonadism and Partial Alopecia:

Name: Hypergonadotropic Hypogonadism and Partial Alopecia 57
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome 58 28
Al Awadi-Farag-Teebi Syndrome 58

Characteristics:


Inheritance:

Hypergonadotropic Hypogonadism and Partial Alopecia: Autosomal recessive 57
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome: Autosomal recessive 58

Prevelance:

Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome: Neonatal 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Hypergonadotropic Hypogonadism and Partial Alopecia

Orphanet: 58 This syndrome is characterized by primary 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, breast and uterus, 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 30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypergonadotropic hypogonadism 58 30 Obligate (100%) Obligate (100%)
HP:0000815
2 primary gonadal insufficiency 58 30 Obligate (100%) Obligate (100%)
HP:0008193
3 alopecia of scalp 58 30 Obligate (100%) Obligate (100%)
HP:0002293
4 osteopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000938
5 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000823
6 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
7 increased circulating gonadotropin level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000837
8 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000939
9 primary amenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000786
10 thin upper lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000219
11 flat occiput 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005469
12 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000789
13 impotence 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000802
14 aplasia/hypoplasia of the uterus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008684
15 decreased serum estradiol 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008214
16 streak ovary 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010464
17 breast hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003187
18 absence of secondary sex characteristics 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008187
19 non-obstructive azoospermia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011961
20 marked delay in bone age 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003799
21 sparse facial hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007464
22 aplasia of the ovary 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010463
23 agonadism 30 Hallmark (90%) HP:0008633
24 decreased serum testosterone concentration 30 Hallmark (90%) HP:0040171
25 kyphosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002808
26 skeletal dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002652
27 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
28 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
29 lumbar hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002938
30 sparse eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0045075
31 sparse pubic hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002225
32 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
33 triphalangeal thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001199
34 thenar muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003393
35 small hypothenar eminence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010487
36 contracture of the proximal interphalangeal joint of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009185
37 small pituitary gland 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012506
38 decreased palmar creases 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006184
39 alopecia 58 30 Very frequent (99-80%)
HP:0001596
40 growth delay 58 Very frequent (99-80%)
41 abnormal eyebrow morphology 58 Very frequent (99-80%)
42 absent gonadal tissue 58 Very frequent (99-80%)
43 decreased testosterone in males 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
G U:
hypogonadism
germinal cell aplasia
streak ovaries
absent gonads

Hair:
partial alopecia
central scalp alopecia

Clinical features from OMIM®:

241090 (Updated 24-Oct-2022)

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 Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome 28

Anatomical Context for Hypergonadotropic Hypogonadism and Partial Alopecia

Organs/tissues related to Hypergonadotropic Hypogonadism and Partial Alopecia:

MalaCards : Ovary, Breast, Uterus, Pituitary, Bone

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. 57
19213036 2009
2
Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings. 57
12749067 2003
3
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. 57
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....