HMMS
MCID: HMM004
MIFTS: 36

Hamamy Syndrome (HMMS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hamamy Syndrome

MalaCards integrated aliases for Hamamy Syndrome:

Name: Hamamy Syndrome 57 58 73 5 38
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility 57 71
Hmms 57 73
Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome 58

Characteristics:


Inheritance:

Hamamy Syndrome: Autosomal recessive 57
Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome: Autosomal recessive 58

Prevelance:

Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Hamamy Syndrome

Orphanet: 58 A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

MalaCards based summary: Hamamy Syndrome, also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility, is related to telecanthus and hair whorl. An important gene associated with Hamamy Syndrome is IRX5 (Iroquois Homeobox 5). Affiliated tissues include bone, eye and skin, and related phenotypes are intellectual disability and high palate

UniProtKB/Swiss-Prot: 73 A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence.

More information from OMIM: 611174

Related Diseases for Hamamy Syndrome

Diseases related to Hamamy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 telecanthus 10.1
2 hair whorl 10.0
3 attention deficit-hyperactivity disorder 10.0
4 taurodontism 10.0
5 alacrima, achalasia, and mental retardation syndrome 10.0
6 speech and communication disorders 10.0
7 deficiency anemia 10.0
8 myopia 10.0
9 dentinogenesis imperfecta 10.0
10 myocardial infarction 10.0
11 avian influenza 10.0
12 acute myocardial infarction 10.0

Graphical network of the top 20 diseases related to Hamamy Syndrome:



Diseases related to Hamamy Syndrome

Symptoms & Phenotypes for Hamamy Syndrome

Human phenotypes related to Hamamy Syndrome:

30 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 high palate 30 Very rare (1%) HP:0000218
3 osteopenia 30 Very rare (1%) HP:0000938
4 inguinal hernia 30 Very rare (1%) HP:0000023
5 hypertelorism 30 Very rare (1%) HP:0000316
6 hip dysplasia 30 Very rare (1%) HP:0001385
7 dental malocclusion 30 Very rare (1%) HP:0000689
8 wide nasal bridge 30 Very rare (1%) HP:0000431
9 smooth philtrum 30 Very rare (1%) HP:0000319
10 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
11 anteverted nares 30 Very rare (1%) HP:0000463
12 brachycephaly 30 Very rare (1%) HP:0000248
13 prominent forehead 30 Very rare (1%) HP:0011220
14 everted lower lip vermilion 30 Very rare (1%) HP:0000232
15 cryptorchidism 30 Very rare (1%) HP:0000028
16 micrognathia 30 Very rare (1%) HP:0000347
17 low-set ears 30 Very rare (1%) HP:0000369
18 low posterior hairline 30 Very rare (1%) HP:0002162
19 neck pterygia 30 Very rare (1%) HP:0009759
20 pectus excavatum 30 Very rare (1%) HP:0000767
21 atrial septal defect 30 Very rare (1%) HP:0001631
22 microcytic anemia 30 Very rare (1%) HP:0001935
23 mitral regurgitation 30 Very rare (1%) HP:0001653
24 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
25 preauricular skin tag 30 Very rare (1%) HP:0000384
26 thin upper lip vermilion 30 Very rare (1%) HP:0000219
27 long philtrum 30 Very rare (1%) HP:0000343
28 recurrent fractures 30 Very rare (1%) HP:0002757
29 telecanthus 30 Very rare (1%) HP:0000506
30 hypoparathyroidism 30 Very rare (1%) HP:0000829
31 wide mouth 30 Very rare (1%) HP:0000154
32 blepharophimosis 30 Very rare (1%) HP:0000581
33 hypodontia 30 Very rare (1%) HP:0000668
34 down-sloping shoulders 30 Very rare (1%) HP:0200021
35 craniosynostosis 30 Very rare (1%) HP:0001363
36 tapered finger 30 Very rare (1%) HP:0001182
37 sparse lateral eyebrow 30 Very rare (1%) HP:0005338
38 moderate global developmental delay 30 Very rare (1%) HP:0011343
39 sparse eyelashes 30 Very rare (1%) HP:0000653
40 high myopia 30 Very rare (1%) HP:0011003
41 hypochromic anemia 30 Very rare (1%) HP:0001931
42 long toe 30 Very rare (1%) HP:0010511
43 syndactyly 30 Very rare (1%) HP:0001159
44 complete atrioventricular canal defect 30 Very rare (1%) HP:0001674
45 prolonged qrs complex 30 Very rare (1%) HP:0006677
46 enamel hypoplasia 30 Very rare (1%) HP:0006297
47 hyperplasia of midface 30 Very rare (1%) HP:0012371
48 abnormal number of hair whorls 30 Very rare (1%) HP:0010813
49 short 2nd finger 30 HP:0009536
50 long fingers 30 HP:0100807

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Genitourinary External Genitalia Male:
inguinal hernia
cryptorchidism
absent gonad activity

Head And Neck Face:
smooth philtrum
long philtrum
bulging midface (in some patients)
parotid gland dysfunction (in some patients)
micrognathia, mild (in some patients)

Head And Neck Ears:
low-set ears
hearing loss, sensorineural
ear anomalies
preauricular skin tags (in some patients)

Head And Neck Mouth:
wide mouth
high-arched palate
thin upper vermilion border

Head And Neck Nose:
broad nasal bridge
anteverted nostrils
absence or dysfunction of nasolacrimal structures
pointed nasal tip

Skin Nails Hair Hair:
low posterior hair line
extra frontal hair whorl

Skeletal:
generalized osteopenia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)

Head And Neck Teeth:
hypodontia (in some patients)
malocclusion (in some patients)
loss of lamina dura
thin or hypoplastic enamel
worn-out teeth (in some patients)

Abdomen Gastrointestinal:
swallowing difficulties (in some patients)

Skeletal Feet:
long toes (in some patients)

Voice:
unclear speech

Skeletal Pelvis:
hip dysplasia

Head And Neck Head:
brachycephaly
low posterior hair line
extra frontal hair whorl

Endocrine Features:
hypoparathyroidism

Skeletal Hands:
long fingers
short index finger
syndactyly (in some patients)
tapering fingers (in some patients)
clinodactyly of fifth finger
more
Head And Neck Neck:
sloping shoulders
pterygium colli

Skeletal Skull:
craniosynostosis (in some patients)

Head And Neck Eyes:
laterally sparse eyebrows
severe hypertelorism
myopia, progressive severe

Cardiovascular Heart:
atrial septal defect (in some patients)
mitral regurgitation (in some patients)
intraventricular conduction delay
atrioventricular canal, total (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus, small (in some patients)

Skeletal Limbs:
long bone fractures

Neurologic Central Nervous System:
psychomotor retardation, moderate

Hematology:
anemia, microcytic hypochromic

Clinical features from OMIM®:

611174 (Updated 24-Oct-2022)

Drugs & Therapeutics for Hamamy Syndrome

Search Clinical Trials, NIH Clinical Center for Hamamy Syndrome

Genetic Tests for Hamamy Syndrome

Anatomical Context for Hamamy Syndrome

Organs/tissues related to Hamamy Syndrome:

MalaCards : Bone, Eye, Skin, Smooth Muscle, Subthalamic Nucleus, Brain, Skeletal Muscle

Publications for Hamamy Syndrome

Articles related to Hamamy Syndrome:

(show top 50) (show all 945)
# Title Authors PMID Year
1
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome. 62 57 5
34899143 2021
2
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 57 5
22581230 2012
3
Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome? 57 5
17230486 2007
4
Explicit and implicit mentalization of patients with first-episode schizophrenia: a study of self-referential gaze perception with eye movement analysis using hidden Markov models. 62
35079856 2022
5
Active control of dielectric singularities in indium-tin-oxides hyperbolic metamaterials. 62
36217019 2022
6
HMS-S-S: A tool for the identification of Sulphur metabolism-related genes and analysis of operon structures in genome and metagenome assemblies. 62
35579058 2022
7
Maximum A Posteriori Approximation of Hidden Markov Models for Proportional Sequential Data Modeling With Simultaneous Feature Selection. 62
33929966 2022
8
Reducing the biases in false correlations between discrete characters. 62
36173613 2022
9
Hyperbolic-Metamaterials-Based SPR Temperature Sensor Enhanced by a Nanodiamond-PDMS Hybrid for High Sensitivity and Fast Response. 62
36070359 2022
10
Microalgal Phycoremediation: A Glimpse into a Sustainable Environment. 62
36136490 2022
11
Evaluation of vicinity-based hidden Markov models for genotype imputation. 62
36038834 2022
12
Bulk Plasmon Polariton Modes in Hyperbolic Metamaterials for Giant Enhancement of the Transverse Magneto-Optical Kerr Effect. 62
36014552 2022
13
WITCH: Improved Multiple Sequence Alignment Through Weighted Consensus Hidden Markov Model Alignment. 62
35575747 2022
14
Coupling plasmon-waveguide resonance and multiple plasma modes in hyperbolic metamaterials for high-performance sensing. 62
35926439 2022
15
Ultrathin Layered Hyperbolic Metamaterial-Assisted Illumination Nanoscopy. 62
35834181 2022
16
Clues to reaction specificity in PLP-dependent fold type I aminotransferases of monosaccharide biosynthesis. 62
35067962 2022
17
EST-Microsatellite Types and Structural Scenarios in European Hake Fisheries. 62
35681926 2022
18
Main features and contamination of sealed soils in the east of Moscow city. 62
34705161 2022
19
Identification of Phage Receptor-Binding Protein Sequences with Hidden Markov Models and an Extreme Gradient Boosting Classifier. 62
35746800 2022
20
Electromagnetic energy density in hyperbolic metamaterials. 62
35750782 2022
21
Twisted Bands with Degenerate Points of Photonic Hypercrystals in Infrared Region. 62
35745323 2022
22
Semi-supervised adapted HMMs for P2P credit scoring systems with reject inference. 62
35601000 2022
23
Enhanced removal of heavy metals and metalloids by constructed wetlands: A review of approaches and mechanisms. 62
35101517 2022
24
PASS2.7: a database containing structure-based sequence alignments and associated features of protein domain superfamilies from SCOPe. 62
35411388 2022
25
Ultrafast changes in effective permittivity of hyperbolic metamaterials and related multi-resonance-induced ultrafast process excited by femtosecond pulses. 62
35473097 2022
26
Omnidirectional nonreciprocal absorber realized by the magneto-optical hypercrystal. 62
35473139 2022
27
Supported Diagnosis of Attention Deficit and Hyperactivity Disorder from EEG Based on Interpretable Kernels for Hidden Markov Models. 62
34996341 2022
28
Driving behavior at midblock crosswalks with Rectangular Rapid Flashing Beacons: Hidden Markov model approach using naturalistic data. 62
34856507 2022
29
Near-infrared ITO-based photonic hypercrystals with large angle-insensitive bandgaps. 62
35167558 2022
30
Enhancement of Self-Collimation Effect in Photonic Crystal Membranes Using Hyperbolic Metamaterials. 62
35159899 2022
31
Parsimonious hidden Markov models for matrix-variate longitudinal data. 62
35730052 2022
32
Ranking of communities in multiplex spatiotemporal models of brain dynamics. 62
35308059 2022
33
Automatic detection of respiratory events during sleep from Polysomnography data using Layered Hidden Markov Model. 62
34936995 2022
34
Systems scale characterization of circadian rhythm pathway in Camellia sinensis. 62
35116135 2022
35
Development of a low-resource wearable continuous gesture-to-speech conversion system. 62
35061549 2022
36
Detection of Emotion of Speech for RAVDESS Audio Using Hybrid Convolution Neural Network. 62
35265307 2022
37
Hidden Markov model segmentation to demarcate trajectories of residual apnoea-hypopnoea index in CPAP-treated sleep apnoea patients to personalize follow-up and prevent treatment failure. 62
34956425 2021
38
TIAMMAt: Leveraging Biodiversity to Revise Protein Domain Models, Evidence from Innate Immunity. 62
34459919 2021
39
Strong Coupling in Semiconductor Hyperbolic Metamaterials. 62
34787424 2021
40
Decision-making, cognitive functions, impulsivity, and media multitasking expectancies in high versus low media multitaskers. 62
34047893 2021
41
Risk and sources of heavy metals and metalloids in dust from university campuses: A case study of Xi'an, China. 62
34284017 2021
42
Identification and classification of antiviral defence systems in bacteria and archaea with PADLOC reveals new system types. 62
34606606 2021
43
Limits and convergence properties of the sequentially Markovian coalescent. 62
33978324 2021
44
Phase transition for parameter learning of hidden Markov models. 62
34781434 2021
45
A Transferrable, Adaptable, Free-Standing, and Water-Resistant Hyperbolic Metamaterial. 62
34609827 2021
46
Variational Beta Process Hidden Markov Models with Shared Hidden States for Trajectory Recognition. 62
34682013 2021
47
A General Synthesis Strategy for Hollow Metal Oxide Microspheres Enabled by Gel-Assisted Precipitation. 62
34409712 2021
48
DPVis: Visual Analytics With Hidden Markov Models for Disease Progression Pathways. 62
32275600 2021
49
Transient neural network dynamics in cognitive ageing. 62
34118787 2021
50
Omnidirectional photonic bandgap in one-dimensional photonic crystals containing hyperbolic metamaterials. 62
34615273 2021

Variations for Hamamy Syndrome

ClinVar genetic disease variations for Hamamy Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRX5 NM_005853.6(IRX5):c.503G>A (p.Arg168His) SNV Pathogenic
1695336 GRCh37: 16:54966663-54966663
GRCh38: 16:54932751-54932751
2 IRX5 NM_005853.6(IRX5):c.498C>A (p.Asn166Lys) SNV Pathogenic
31910 rs786200931 GRCh37: 16:54966658-54966658
GRCh38: 16:54932746-54932746
3 IRX5 NM_005853.6(IRX5):c.448G>C (p.Ala150Pro) SNV Pathogenic
31911 rs387907198 GRCh37: 16:54966608-54966608
GRCh38: 16:54932696-54932696
4 IRX5 NM_005853.6(IRX5):c.1362_1368delinsGT (p.Lys455fs) INDEL Pathogenic
374379 rs1057518725 GRCh37: 16:54967695-54967701
GRCh38: 16:54933783-54933789
5 IRX5 NM_005853.6(IRX5):c.237CTC[1] (p.Ser81del) MICROSAT Uncertain Significance
374378 rs776389982 GRCh37: 16:54965347-54965349
GRCh38: 16:54931435-54931437
6 IRX5 NM_005853.6(IRX5):c.896G>A (p.Gly299Asp) SNV Uncertain Significance
1032363 rs1168229929 GRCh37: 16:54967229-54967229
GRCh38: 16:54933317-54933317
7 IRX5 NM_005853.6(IRX5):c.800C>G (p.Pro267Arg) SNV Uncertain Significance
1696590 GRCh37: 16:54967133-54967133
GRCh38: 16:54933221-54933221
8 IRX5 NM_005853.6(IRX5):c.691C>G (p.Arg231Gly) SNV Uncertain Significance
717633 rs200111411 GRCh37: 16:54967024-54967024
GRCh38: 16:54933112-54933112
9 IRX5 NM_005853.6(IRX5):c.763C>A (p.Pro255Thr) SNV Benign
1183410 GRCh37: 16:54967096-54967096
GRCh38: 16:54933184-54933184

UniProtKB/Swiss-Prot genetic disease variations for Hamamy Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 IRX5 p.Ala150Pro VAR_068483 rs387907198
2 IRX5 p.Asn166Lys VAR_068484 rs786200931

Expression for Hamamy Syndrome

Search GEO for disease gene expression data for Hamamy Syndrome.

Pathways for Hamamy Syndrome

GO Terms for Hamamy Syndrome

Sources for Hamamy Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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