Hypotonia-cystinuria type 1

Description

This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).

Index terms

Hypotonia-cystinuria type 1
Atypical hypotonia-cystinuria syndrome
Atypical HCS - [hypotonia-cystinuria syndrome]

Exclusions from above levels

http://id.who.int/icd/entity/1746821938 – Urolithiasis
01 – Certain infectious or parasitic diseases
05 – Endocrine, nutritional or metabolic diseases

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18 – Complications of pregnancy, childbirth and the puerperium
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

GB90.41 – Pseudohypoaldosteronism type 1
GB90.42 – Fanconi syndrome
GB90.43 – Bartter syndrome
GB90.44 – Renal tubular acidosis
GB90.45 – Renal glycosuria
GB90.46 – Tubular disorders of sodium or potassium transport
GB90.47 – Aminoaciduria
GB90.48 – Disorders of calcium or phosphate excretion
GB90.49 – Renal hypocalciuria
GB90.4A – Nephrogenic diabetes insipidus
GB90.4Y – Other specified renal tubular function disorders
GB90.4Z – Renal tubular function disorders, unspecified

Foundation entity

Hypotonia-cystinuria type 1 – http://id.who.int/icd/entity/1852649756

Part of: GB90.4: Renal tubular function disorders › GB90: Certain specified disorders of kidney or ureter › 16: Diseases of the genitourinary system