H syndrome

MONDO:0011273Mondo

Findings

No curated finding names H syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

Definition from the Mondo Disease Ontology (MONDO:0011273), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance

Features

79 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

AzoospermiaHPOHP:0000027
- 3 of 3 reported patients · Male
- Occasional (5% to 29% of cases)
Camptodactyly of fingerHPOHP:0100490
- 7 of 7 reported patients
Elevated erythrocyte sedimentation rateHPOHP:0003565
- 3 of 3 reported patients
Flexion contracture of fingerHPOHP:0012785
- 4 of 4 reported patients
Flexion contracture of toeHPOHP:0005830
- 4 of 4 reported patients
Gynecomastia

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

SLC29A3HGNC:23096
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: hereditary skin disorder
hyperpigmentation of the skin
laryngeal disorder
sinus histiocytosis with massive lymphadenopathy

Other names

1 name

Resolves to: H syndrome

Also called: Asrar Facharzt Haque syndrome

Show the remaining 67

Hallux valgusHPOHP:0001822
- 7 of 8 reported patients
- Occasional (5% to 29% of cases)
Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
Hyperpigmentation of the skinHPOHP:0000953
- 9 of 12 reported patients
- Very frequent (80% to 99% of cases)
SclerodermaHPOHP:0100324
- Very frequent (80% to 99% of cases)
Stiff skinHPOHP:0030053
- Very frequent (80% to 99% of cases)
HepatosplenomegalyHPOHP:0001433
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
Sensorineural hearing impairmentHPOHP:0000407
- 8 of 11 reported patients
FeverHPOHP:0001945
- 2 of 3 reported patients
SplenomegalyHPOHP:0001744
- 8 of 12 reported patients
CamptodactylyHPOHP:0012385
- 2 of 10 reported patients
- Frequent (30% to 79% of cases)
HypertrichosisHPOHP:0000998
- Frequent (30% to 79% of cases)
Short statureHPOHP:0004322
- 4 of 7 reported patients
- Frequent (30% to 79% of cases)
Varicose veinsHPOHP:0002619
- 11 of 19 reported patients
- Occasional (5% to 29% of cases)
EpiscleritisHPOHP:0100534
- 8 of 14 reported patients
HepatomegalyHPOHP:0002240
- 13 of 23 reported patients
Facial telangiectasiaHPOHP:0007380
- 10 of 18 reported patients
- Occasional (5% to 29% of cases)
Alopecia of scalpHPOHP:0002293
- 1 of 2 reported patients
Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
ClinodactylyHPOHP:0030084
- 2 of 4 reported patients
Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
MicropenisHPOHP:0000054
- 6 of 12 reported patients · Male
- Occasional (5% to 29% of cases)
Pes planusHPOHP:0001763
- 2 of 4 reported patients
- Occasional (5% to 29% of cases)
RetrognathiaHPOHP:0000278
- 1 of 2 reported patients
Tibial torsionHPOHP:0100694
- 4 of 8 reported patients
Corneal arcusHPOHP:0001084
- 4 of 10 reported patients
- Occasional (5% to 29% of cases)
Abnormal cardiovascular system physiologyHPOHP:0011025
- Occasional (5% to 29% of cases)
Abnormal eyebrow morphologyHPOHP:0000534
- Occasional (5% to 29% of cases)
Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
AlopeciaHPOHP:0001596
- Occasional (5% to 29% of cases)
AmenorrheaHPOHP:0000141
- Occasional (5% to 29% of cases)
BronchiectasisHPOHP:0002110
- Occasional (5% to 29% of cases)
Chronic rhinitisHPOHP:0002257
- Occasional (5% to 29% of cases)
Cleft upper lipHPOHP:0000204
- Occasional (5% to 29% of cases)
Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
Diabetes mellitusHPOHP:0000819
- Occasional (5% to 29% of cases)
Enlarged kidneyHPOHP:0000105
- Occasional (5% to 29% of cases)
Full cheeksHPOHP:0000293
- Occasional (5% to 29% of cases)
Gingival overgrowthHPOHP:0000212
- Occasional (5% to 29% of cases)
HerniaHPOHP:0100790
- Occasional (5% to 29% of cases)
HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
HypertriglyceridemiaHPOHP:0002155
- Occasional (5% to 29% of cases)
HypogonadismHPOHP:0000135
- Occasional (5% to 29% of cases)
IchthyosisHPOHP:0008064
- Occasional (5% to 29% of cases)
LipodystrophyHPOHP:0009125
- Occasional (5% to 29% of cases)
MalabsorptionHPOHP:0002024
- Occasional (5% to 29% of cases)
Microcytic anemiaHPOHP:0001935
- Occasional (5% to 29% of cases)
Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
OsteolysisHPOHP:0002797
- Occasional (5% to 29% of cases)
ProptosisHPOHP:0000520
- 8 of 21 reported patients
- Occasional (5% to 29% of cases)
Psoriasiform dermatitisHPOHP:0003765
- Occasional (5% to 29% of cases)
Recurrent feverHPOHP:0001954
- Occasional (5% to 29% of cases)
Recurrent fracturesHPOHP:0002757
- Occasional (5% to 29% of cases)
Recurrent pharyngitisHPOHP:0100776
- Occasional (5% to 29% of cases)
Upper eyelid edemaHPOHP:0012724
- Occasional (5% to 29% of cases)
Atrial septal defectHPOHP:0001631
- 2 of 10 reported patients
Mitral valve prolapseHPOHP:0001634
- 2 of 10 reported patients
Left superior vena cava draining to coronary sinusHPOHP:0011670
- 1 of 8 reported patients · Congenital onset
Patent ductus arteriosusHPOHP:0001643
- 1 of 8 reported patients · Congenital onset
Pulmonic stenosisHPOHP:0001642
- 1 of 8 reported patients
Rocker bottom footHPOHP:0001838
- 1 of 8 reported patients
Pulmonary arterial hypertensionHPOHP:0002092
- 2 of 18 reported patients
CardiomegalyHPOHP:0001640
- 1 of 10 reported patients
Ventricular septal defectHPOHP:0001629
- 1 of 10 reported patients
Decreased response to growth hormone stimulation testHPOHP:0000824
Hypergonadotropic hypogonadismHPOHP:0000815