HMMS
MCID: HMM004
MIFTS: 37

Hamamy Syndrome (HMMS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hamamy Syndrome

MalaCards integrated aliases for Hamamy Syndrome:

Name: Hamamy Syndrome 56 58 73 36 29 13 6
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility 56 71
Hmms 56 73
Severe Hypertelorism with Midface Prominence Myopia Mental Retardation and Bone Fragility 73
Craniofacial Dysplasia-Osteopenia Syndrome 58
Syndrome, Hamamy 39

Characteristics:

Orphanet epidemiological data:

58
craniofacial dysplasia-osteopenia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hamamy syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Hamamy Syndrome

KEGG : 36 Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Patients have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. It has been reported that mutations in IRX5 cause HMMS by repressing SDF1. SDF1 encodes a chemokine essential for cranial neural crest cell migration.

MalaCards based summary : Hamamy Syndrome, also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility, is related to global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies and cerebral palsy. An important gene associated with Hamamy Syndrome is IRX5 (Iroquois Homeobox 5). Affiliated tissues include bone, brain and skin, and related phenotypes are pectus excavatum and dysphagia

UniProtKB/Swiss-Prot : 73 Hamamy syndrome: 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

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:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 occasional (7.5%) HP:0000767
2 dysphagia 31 occasional (7.5%) HP:0002015
3 dental malocclusion 31 occasional (7.5%) HP:0000689
4 micrognathia 31 occasional (7.5%) HP:0000347
5 craniosynostosis 31 occasional (7.5%) HP:0001363
6 atrial septal defect 31 occasional (7.5%) HP:0001631
7 long toe 31 occasional (7.5%) HP:0010511
8 mitral regurgitation 31 occasional (7.5%) HP:0001653
9 preauricular skin tag 31 occasional (7.5%) HP:0000384
10 hypodontia 31 occasional (7.5%) HP:0000668
11 tapered finger 31 occasional (7.5%) HP:0001182
12 syndactyly 31 occasional (7.5%) HP:0001159
13 hypertelorism 31 HP:0000316
14 low-set ears 31 HP:0000369
15 clinodactyly 31 HP:0030084
16 high palate 31 HP:0000218
17 osteopenia 31 HP:0000938
18 developmental regression 31 HP:0002376
19 inguinal hernia 31 HP:0000023
20 hip dysplasia 31 HP:0001385
21 wide nasal bridge 31 HP:0000431
22 cryptorchidism 31 HP:0000028
23 smooth philtrum 31 HP:0000319
24 sensorineural hearing impairment 31 HP:0000407
25 anteverted nares 31 HP:0000463
26 brachycephaly 31 HP:0000248
27 long philtrum 31 HP:0000343
28 webbed neck 31 HP:0000465
29 low posterior hairline 31 HP:0002162
30 microcytic anemia 31 HP:0001935
31 hypoparathyroidism 31 HP:0000829
32 wide mouth 31 HP:0000154
33 hypochromic anemia 31 HP:0001931
34 down-sloping shoulders 31 HP:0200021
35 sparse lateral eyebrow 31 HP:0005338
36 moderate global developmental delay 31 HP:0011343
37 high myopia 31 HP:0011003
38 short 2nd finger 31 HP:0009536

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
hearing loss, sensorineural
ear anomalies
preauricular skin tags (in some patients)

Skeletal Pelvis:
hip dysplasia

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

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

Abdomen Gastrointestinal:
swallowing difficulties (in some patients)

Skeletal Feet:
long toes (in some patients)

Voice:
unclear speech

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)

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

Drugs & Therapeutics for Hamamy Syndrome

Search Clinical Trials , NIH Clinical Center for Hamamy Syndrome

Genetic Tests for Hamamy Syndrome

Genetic tests related to Hamamy Syndrome:

# Genetic test Affiliating Genes
1 Hamamy Syndrome 29 IRX5

Anatomical Context for Hamamy Syndrome

MalaCards organs/tissues related to Hamamy Syndrome:

40
Bone, Brain, Skin, Smooth Muscle, Monocytes, Eye, Heart

Publications for Hamamy Syndrome

Articles related to Hamamy Syndrome:

(show top 50) (show all 814)
# Title Authors PMID Year
1
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 56 6
22581230 2012
2
Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome? 56 6
17230486 2007
3
Emergent Inference of Hidden Markov Models in Spiking Neural Networks Through Winner-Take-All. 61
30295641 2020
4
Interesterification of Soybean Oil with Propylene Glycol in Supercritical Carbon Dioxide and Analysis by NMR Spectroscopy. 61
31919758 2020
5
MiST 3.0: an updated microbial signal transduction database with an emphasis on chemosensory systems. 61
31754718 2020
6
Data mining techniques utilizing latent class models to evaluate emergency department revisits. 61
31747623 2020
7
Speeding up training of automated bird recognizers by data reduction of audio features. 61
32025373 2020
8
Real-time machine learning classification of pallidal borders during deep brain stimulation surgery. 61
31675740 2020
9
Vision-Based Attentiveness Determination Using Scalable HMM Based on Relevance Theory. 61
31817005 2019
10
Trajectory-Based Simulation of EPR Spectra: Models of Rotational Motion for Spin Labels on Proteins. 61
31693365 2019
11
Handling underlying discrete variables with bivariate mixed hidden Markov models in NONMEM. 61
31654267 2019
12
JUCHMME: a Java Utility for Class Hidden Markov Models and Extensions for biological sequence analysis. 61
31250907 2019
13
Continuous-state HMMs for modeling time-series single-cell RNA-Seq data. 61
31038684 2019
14
Unpacking Transient Event Dynamics in Electrophysiological Power Spectra. 61
31754933 2019
15
Modeling physical activity data using L0 -penalized expectile regression. 61
31172553 2019
16
Validating the AMRFinder Tool and Resistance Gene Database by Using Antimicrobial Resistance Genotype-Phenotype Correlations in a Collection of Isolates. 61
31427293 2019
17
GToTree: a user-friendly workflow for phylogenomics. 61
30865266 2019
18
aphid: an R package for analysis with profile hidden Markov models. 61
30840059 2019
19
Hidden Markov Models Predict the Future Choice Better Than a PSTH-Based Method. 61
31335289 2019
20
Low-MSE extraction of permittivity in optical hyperbolic metamaterials. 61
31465388 2019
21
Hidden Markov Modelling Reveals Neighborhood Dependence of Dnmt3a and 3b Activity. 61
31027045 2019
22
HH-suite3 for fast remote homology detection and deep protein annotation. 61
31521110 2019
23
State-space modeling reveals habitat perception of a small terrestrial mammal in a fragmented landscape. 61
31534695 2019
24
Super-sensitive tunable planar lens based on graphene hyperbolic metamaterials. 61
31510358 2019
25
Systematic Analysis of Metabolic Pathway Distributions of Bacterial Energy Reserves. 61
31151997 2019
26
Sparse Convolutional Denoising Autoencoders for Genotype Imputation. 61
31466333 2019
27
Highly anisotropic titanium nitride nanowire arrays for low-loss hyperbolic metamaterials fabricated via dynamic oblique deposition. 61
31026845 2019
28
Profile Hidden Markov Models are Not Identifiable. 61
31425043 2019
29
Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism. 61
30922903 2019
30
Semi-supervised learning of Hidden Markov Models for biological sequence analysis. 61
30445435 2019
31
MetaHMM: A webserver for identifying novel genes with specified functions in metagenomic samples. 61
29802977 2019
32
Investigation of effective media applicability for ultrathin multilayer structures. 61
31231735 2019
33
A Markov-Switching Model Approach to Heart Sound Segmentation and Classification. 61
31251203 2019
34
Seasonal and spatial contamination statuses and ecological risk of sediment cores highly contaminated by heavy metals and metalloids in the Xiangjiang River. 61
30661141 2019
35
Exact inference for integrated population modelling. 61
30746692 2019
36
FactorialHMM: fast and exact inference in factorial hidden Markov models. 61
30445428 2019
37
Automatic acoustic classification of insect species based on directed acyclic graphs. 61
31255110 2019
38
Broadband hyperbolic metamaterial covering the whole visible-light region. 61
31199358 2019
39
Bayesian-Estimated Hierarchical HMMs Enable Robust Analysis of Single-Molecule Kinetic Heterogeneity. 61
31010664 2019
40
Improved state change estimation in dynamic functional connectivity using hidden semi-Markov models. 61
30753927 2019
41
GPU accelerated sequence alignment with traceback for GATK HaplotypeCaller. 61
30967111 2019
42
Variational Bayesian Learning of Generalized Dirichlet-Based Hidden Markov Models Applied to Unusual Events Detection. 61
30106697 2019
43
TASmania: A bacterial Toxin-Antitoxin Systems database. 61
31022176 2019
44
Protein Structure-Guided Hidden Markov Models (HMMs) as A Powerful Method in the Detection of Ancestral Endogenous Viral Elements. 61
30986983 2019
45
Weakly Supervised Learning with Multi-Stream CNN-LSTM-HMMs to Discover Sequential Parallelism in Sign Language Videos. 61
30990421 2019
46
Assessment of Dysarthria Using One-Word Speech Recognition with Hidden Markov Models. 61
30950253 2019
47
Aggregated Wasserstein Distance and State Registration for Hidden Markov Models. 61
30946661 2019
48
Understanding narwhal diving behaviour using Hidden Markov Models with dependent state distributions and long range dependence. 61
30870414 2019
49
Neuropsychological Findings in Hamamy Syndrome: A Clinical Case Report. 61
30729910 2019
50
Detection of abnormal behaviour for dementia sufferers using Convolutional Neural Networks. 61
30871686 2019

Variations for Hamamy Syndrome

ClinVar genetic disease variations for Hamamy Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRX5 NM_005853.6(IRX5):c.498C>A (p.Asn166Lys)SNV Pathogenic 31910 rs786200931 16:54966658-54966658 16:54932746-54932746
2 IRX5 NM_005853.6(IRX5):c.448G>C (p.Ala150Pro)SNV Pathogenic 31911 rs387907198 16:54966608-54966608 16:54932696-54932696
3 IRX5 NM_005853.6(IRX5):c.1362_1368delinsGT (p.Lys455fs)indel Pathogenic 374379 rs1057518725 16:54967695-54967701 16:54933783-54933789
4 IRX5 NM_005853.6(IRX5):c.237_239CTC[1] (p.Ser81del)short repeat Uncertain significance 374378 rs776389982 16:54965347-54965349 16:54931435-54931437

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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