MCID: INH021
MIFTS: 15

Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

MalaCards integrated aliases for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency:

Name: Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

MalaCards based summary : Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency An important gene associated with Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency is CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1). Affiliated tissues include adrenal gland, uterus and bone, and related phenotypes are agenesis of corpus callosum and failure to thrive

Related Diseases for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Symptoms & Phenotypes for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Human phenotypes related to Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
7 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
8 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
10 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
11 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
12 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
13 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
14 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
15 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
16 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
17 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
18 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
19 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
20 aplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000151
21 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
22 sex reversal 58 31 hallmark (90%) Very frequent (99-80%) HP:0012245
23 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
24 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
25 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
26 decreased circulating androgen level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030349
27 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
28 decreased circulating cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008163
29 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
30 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
31 hypernatriuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012605
32 increased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000848
33 acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001941
34 generalized bronze hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007574
35 low maternal serum estriol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008073
36 abnormality of the leydig cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0010789
37 abnormal urine potassium concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012598
38 induced vaginal delivery 58 31 hallmark (90%) Very frequent (99-80%) HP:0030369
39 abnormal circulating cholesterol concentration 31 hallmark (90%) HP:0003107
40 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
41 adrenal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000835
42 elevated circulating follicle stimulating hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0008232
43 elevated circulating luteinizing hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0011969
44 midshaft hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0012854
45 adrenal calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0010512
46 clitoral hypertrophy 31 occasional (7.5%) HP:0008665
47 reduced bone mineral density 58 Very frequent (99-80%)
48 generalized hyperpigmentation 58 Very frequent (99-80%)
49 clitoromegaly 58 Occasional (29-5%)
50 primary adrenal insufficiency 58 Very frequent (99-80%)

Drugs & Therapeutics for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Search Clinical Trials , NIH Clinical Center for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency

Genetic Tests for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Anatomical Context for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

MalaCards organs/tissues related to Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency:

40
Adrenal Gland, Uterus, Bone

Publications for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Variations for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Expression for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Search GEO for disease gene expression data for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency.

Pathways for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

GO Terms for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

Sources for Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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