MCID: INH021
MIFTS: 16

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 59

Characteristics:

Orphanet epidemiological data:

59
inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 59  
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 uterus and bone, and related phenotypes are cryptorchidism and ambiguous genitalia, male

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:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 ambiguous genitalia, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0000033
3 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
4 renal salt wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000127
5 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
6 aplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000151
7 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
8 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
9 adrenal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000835
10 increased circulating renin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000848
11 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
12 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
13 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
14 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
15 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
16 acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001941
17 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
18 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
19 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
20 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
21 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
22 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
23 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
24 abnormality of cholesterol metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0003107
25 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
26 hypernatriuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012605
27 generalized bronze hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007574
28 low maternal serum estriol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008073
29 decreased circulating cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0008163
30 absence of secondary sex characteristics 59 32 hallmark (90%) Very frequent (99-80%) HP:0008187
31 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
32 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
33 adrenal calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0010512
34 abnormality of the leydig cells 59 32 hallmark (90%) Very frequent (99-80%) HP:0010789
35 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
36 adrenocorticotropic hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0011749
37 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
38 sex reversal 59 32 hallmark (90%) Very frequent (99-80%) HP:0012245
39 abnormal urine potassium concentration 59 32 hallmark (90%) Very frequent (99-80%) HP:0012598
40 midshaft hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0012854
41 decreased circulating androgen level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030349
42 induced vaginal delivery 59 32 hallmark (90%) Very frequent (99-80%) HP:0030369
43 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
44 clitoromegaly 59 Occasional (29-5%)
45 abnormality of the vagina 59 Occasional (29-5%)
46 primary adrenal insufficiency 59 Very frequent (99-80%)
47 abnormality of prenatal development or birth 59 Very frequent (99-80%)
48 reduced bone mineral density 59 Very frequent (99-80%)
49 generalized hyperpigmentation 59 Very frequent (99-80%)
50 elevated follicle stimulating hormone 59 Frequent (79-30%)

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

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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:

41
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...

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