Rare Disease Library

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

X-linked adrenoleukodystrophy

ALD · X-ALD

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

Adrenocortical carcinoma with pure aldosterone hypersecretion

Pure APAC · Pure aldosterone-producing adrenocortical carcinoma

Bleeding disorder due to CalDAG-GEFI deficiency

Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

Ectopic aldosterone-producing tumor

Extra-adrenal aldosterone-producing tumor

Familial hyperaldosteronism

FH

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

Familial hyperaldosteronism type II

FH-II · FH2

Familial hyperaldosteronism type III

FH-III · FH3

Familial hyperaldosteronism type IV

FH4

Familial hypoaldosteronism

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Genetic hyperaldosteronism

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Tungland-Bellman syndrome

Hunter-Carpenter-McDonald syndrome

Intellectual disability-balding-patella luxation-acromicria syndrome

Scholte-Begeer-van Essen syndrome

Late-onset familial hypoaldosteronism

Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

Piebaldism

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

Pseudohypoaldosteronism

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Pseudohypoaldosteronism type 2A

PHA2A

Pseudohypoaldosteronism type 2B

PHA2B

Pseudohypoaldosteronism type 2C

PHA2C

Pseudohypoaldosteronism type 2D

PHA2D

Pseudohypoaldosteronism type 2E

PHA2E

Rare hypoaldosteronism

Rare non surgically correctable form of primary aldosteronism

Rare primary hyperaldosteronism

Rare primary aldosteronism

Rare surgically correctable form of primary aldosteronism

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

Staphylococcal scalded skin syndrome

Generalized exfoliative disease · SSSS

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Transaldolase deficiency

TALDO deficiency

Transient pseudohypoaldosteronism

TPHA · Secondary pseudohypoaldosteronism