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 bone and uterus, 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:

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

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:

41
Bone, Uterus

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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