SULEHS
MCID: SLM004
MIFTS: 19

Suleiman-El-Hattab Syndrome (SULEHS)

Categories: Genetic diseases

Aliases & Classifications for Suleiman-El-Hattab Syndrome

MalaCards integrated aliases for Suleiman-El-Hattab Syndrome:

Name: Suleiman-El-Hattab Syndrome 57 72 6
Sulehs 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth
four unrelated patients have been reported (last curated july 2020)


HPO:

31
suleiman-el-hattab syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Suleiman-El-Hattab Syndrome

OMIM® : 57 Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by Suleiman et al., 2019). (618950) (Updated 05-Apr-2021)

MalaCards based summary : Suleiman-El-Hattab Syndrome, is also known as sulehs. An important gene associated with Suleiman-El-Hattab Syndrome is TASP1 (Taspase 1). Related phenotypes are failure to thrive and high palate

UniProtKB/Swiss-Prot : 72 Suleiman-El-Hattab syndrome: An autosomal recessive syndrome characterized by global developmental delay with poor expressive language, poor fine motor skills and hypotonia, microcephaly, feeding difficulties with failure to thrive, recurrent respiratory infections, cardiovascular malformations, cryptorchidism, happy demeanor, and facial dysmorphism. Distinctive facial features are excessive forehead hair, arched and thick eyebrows with synophrys, epicanthus, hypertelorism, thick eyelids with periorbital fullness, broad nasal bridge, long and smooth philtrum, thin upper lip, and low set prominent ears.

Related Diseases for Suleiman-El-Hattab Syndrome

Symptoms & Phenotypes for Suleiman-El-Hattab Syndrome

Human phenotypes related to Suleiman-El-Hattab Syndrome:

31 (show all 48)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 high palate 31 very rare (1%) HP:0000218
3 hearing impairment 31 very rare (1%) HP:0000365
4 global developmental delay 31 very rare (1%) HP:0001263
5 inguinal hernia 31 very rare (1%) HP:0000023
6 hypertelorism 31 very rare (1%) HP:0000316
7 recurrent respiratory infections 31 very rare (1%) HP:0002205
8 wide nasal bridge 31 very rare (1%) HP:0000431
9 microcephaly 31 very rare (1%) HP:0000252
10 smooth philtrum 31 very rare (1%) HP:0000319
11 thick eyebrow 31 very rare (1%) HP:0000574
12 thick lower lip vermilion 31 very rare (1%) HP:0000179
13 strabismus 31 very rare (1%) HP:0000486
14 cryptorchidism 31 very rare (1%) HP:0000028
15 low-set ears 31 very rare (1%) HP:0000369
16 webbed neck 31 very rare (1%) HP:0000465
17 epicanthus 31 very rare (1%) HP:0000286
18 wide mouth 31 very rare (1%) HP:0000154
19 downslanted palpebral fissures 31 very rare (1%) HP:0000494
20 brachydactyly 31 very rare (1%) HP:0001156
21 downturned corners of mouth 31 very rare (1%) HP:0002714
22 overfolded helix 31 very rare (1%) HP:0000396
23 hydronephrosis 31 very rare (1%) HP:0000126
24 preauricular skin tag 31 very rare (1%) HP:0000384
25 highly arched eyebrow 31 very rare (1%) HP:0002553
26 thin upper lip vermilion 31 very rare (1%) HP:0000219
27 long philtrum 31 very rare (1%) HP:0000343
28 protruding ear 31 very rare (1%) HP:0000411
29 amblyopia 31 very rare (1%) HP:0000646
30 ventricular septal defect 31 very rare (1%) HP:0001629
31 microretrognathia 31 very rare (1%) HP:0000308
32 synophrys 31 very rare (1%) HP:0000664
33 optic disc pallor 31 very rare (1%) HP:0000543
34 feeding difficulties 31 very rare (1%) HP:0011968
35 single transverse palmar crease 31 very rare (1%) HP:0000954
36 blue nevus 31 very rare (1%) HP:0100814
37 generalized hypotonia 31 very rare (1%) HP:0001290
38 hypermetropia 31 very rare (1%) HP:0000540
39 prominent glabella 31 very rare (1%) HP:0002057
40 clinodactyly 31 very rare (1%) HP:0030084
41 periorbital fullness 31 very rare (1%) HP:0000629
42 drooling 31 very rare (1%) HP:0002307
43 polydactyly 31 very rare (1%) HP:0010442
44 patent foramen ovale 31 very rare (1%) HP:0001655
45 happy demeanor 31 very rare (1%) HP:0040082
46 frontal hirsutism 31 very rare (1%) HP:0011335
47 seizure 31 very rare (1%) HP:0001250
48 palpebral thickening 31 very rare (1%) HP:0030939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
hypertelorism
strabismus
epicanthus
amblyopia
synophrys
more
Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Neck:
webbed neck

Skeletal Hands:
brachydactyly
clinodactyly
polydactyly
single palmar crease

Skin Nails Hair Hair:
hirsutism
excessive forehead hair

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor

Cardiovascular Heart:
septal defects
cardiac malformations

Respiratory:
respiratory infections

Head And Neck Head:
microcephaly (down to -5 sd)

Neurologic Central Nervous System:
global developmental delay
unsteady gait
seizures (in some patients)
poor communication
poor fine motor skills
more
Growth Height:
short stature

Head And Neck Ears:
low-set ears
prominent ears
overfolded helices
hearing impairment (1 patient)

Head And Neck Mouth:
wide mouth
thin upper lip
thick lower lip

Head And Neck Face:
microretrognathia
prominent glabella
long smooth philtrum
distinctive facies
variable dysmorphic features

Abdomen Gastrointestinal:
drooling
poor feeding

Head And Neck Nose:
broad nasal bridge

Skin Nails Hair Skin:
preauricular skin tags

Genitourinary Kidneys:
hydronephrosis (1 patient)

Clinical features from OMIM®:

618950 (Updated 05-Apr-2021)

Drugs & Therapeutics for Suleiman-El-Hattab Syndrome

Search Clinical Trials , NIH Clinical Center for Suleiman-El-Hattab Syndrome

Genetic Tests for Suleiman-El-Hattab Syndrome

Anatomical Context for Suleiman-El-Hattab Syndrome

Publications for Suleiman-El-Hattab Syndrome

Articles related to Suleiman-El-Hattab Syndrome:

# Title Authors PMID Year
1
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. 6 57
31209944 2019
2
TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. 6 57
29633245 2018

Variations for Suleiman-El-Hattab Syndrome

ClinVar genetic disease variations for Suleiman-El-Hattab Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TASP1 NM_017714.3(TASP1):c.701C>T (p.Thr234Met) SNV Pathogenic 633774 rs904200599 GRCh37: 20:13514763-13514763
GRCh38: 20:13534116-13534116
2 TASP1 NM_017714.3(TASP1):c.199C>T (p.Arg67Ter) SNV Pathogenic 633609 rs1200336864 GRCh37: 20:13605846-13605846
GRCh38: 20:13625199-13625199
3 TASP1 NC_000020.10:g.13448380_13597783del Deletion Pathogenic 633715 GRCh37: 20:13448380-13597783
GRCh38: 20:13467733-13617136

Expression for Suleiman-El-Hattab Syndrome

Search GEO for disease gene expression data for Suleiman-El-Hattab Syndrome.

Pathways for Suleiman-El-Hattab Syndrome

GO Terms for Suleiman-El-Hattab Syndrome

Sources for Suleiman-El-Hattab Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....