Pain, and Intellectual disability, mild

Diseases related with Pain and Intellectual disability, mild

In the following list you will find some of the most common rare diseases related to Pain and Intellectual disability, mild that can help you solving undiagnosed cases.


Top matches:

Medium match MIRROR MOVEMENTS 1; MRMV1


Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). Genetic Heterogeneity of Mirror MovementsSee also MRMV2 (OMIM ), caused by mutation in the RAD51 gene (OMIM ) on chromosome 15q15, and MRMV3 (OMIM ), caused by mutation in the DNAL4 gene (OMIM ) on chromosome 22q13.

MIRROR MOVEMENTS 1; MRMV1 Is also known as mirror movements 1 and/or agenesis of the corpus callosum|bimanual synergia|mirror movements, congenital

Related symptoms:

  • Pain
  • Delayed speech and language development
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about MIRROR MOVEMENTS 1; MRMV1

Medium match FAMILIAL CONGENITAL MIRROR MOVEMENTS


FAMILIAL CONGENITAL MIRROR MOVEMENTS Is also known as hereditary congenital controlateral synkinesia|isolated congenital controlateral synkinesia|hereditary congenital mirror movements|isolated congenital mirror movements|familial congenital controlateral synkinesia

Related symptoms:

  • Pain
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Myalgia
  • Abnormality of movement


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CONGENITAL MIRROR MOVEMENTS

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5


Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v|insensitivity to pain, congenital|hsan5|congenital insensitivity to pain and thermal analgesia|hereditary sensory and autonomic neuropathy type v

Related symptoms:

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5

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Other less relevant matches:

Medium match DARIER DISEASE


Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

DARIER DISEASE Is also known as keratosis follicularis|darier-white disease|dd|darier disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DARIER DISEASE

Medium match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Medium match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Medium match INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP


Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Medium match MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Medium match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Top 5 symptoms//phenotypes associated to Pain and Intellectual disability, mild

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Intellectual disability, mild. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Anhidrosis Elevated serum creatine phosphokinase Tremor Hypohidrosis Growth delay Microcephaly Flexion contracture Pain insensitivity Arthralgia Painless fractures due to injury Psoriasiform dermatitis Fatigue Ichthyosis Delayed speech and language development Peripheral neuropathy Muscle weakness Agenesis of corpus callosum Abnormality of the nervous system Clumsiness Hearing impairment Sensorineural hearing impairment Bimanual synkinesia Myalgia Seizures Hepatomegaly Areflexia Easy fatigability Elevated hepatic transaminase Cachexia Abnormal cerebellum morphology Hepatosplenomegaly Spastic tetraparesis Osteopenia Myoclonus Bone pain Generalized-onset seizure Ophthalmoplegia Abnormal pyramidal sign Decreased number of peripheral myelinated nerve fibers Thrombocytopenia Anosmia Fever Hyporeflexia Hepatic failure Recurrent fractures Urinary incontinence Abnormal autonomic nervous system physiology Steppage gait Dysarthria Bowel incontinence Hypersplenism Hyposmia Recurrent corneal erosions Acetabular dysplasia Ataxia Anemia Loss of consciousness Kyphosis Erlenmeyer flask deformity of the femurs Hepatic steatosis Cardiomyopathy Myopathy Congestive heart failure Recurrent infections Obesity Diabetes mellitus Difficulty walking Proximal muscle weakness Distal muscle weakness Waddling gait Increased serum beta-hexosaminidase Hypertriglyceridemia Progressive muscle weakness Insulin resistance Fasciculations Exercise intolerance Hyperlipidemia Gowers sign Difficulty running Neck muscle weakness Progressive proximal muscle weakness Skeletal muscle atrophy Increased serum iduronate sulfatase activity Elevated serum acid phosphatase Joint stiffness Increased cerebral lipofuscin Scoliosis Myopia Abnormality of the skeletal system Short neck Mildly elevated creatine phosphokinase Coarse facial features Pes planus Hyperlordosis Pectus carinatum Flat capital femoral epiphysis Genu valgum Cardiomegaly Aortic valve stenosis Opacification of the corneal stroma Aortic regurgitation Abnormality of the hand Spondyloepiphyseal dysplasia Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Impaired social interactions Brachycephaly Cupped ear Pruritus Self-mutilation Poor wound healing Abnormality of the gingiva Impaired temperature sensation Acral ulceration Decreased number of small peripheral myelinated nerve fibers Hyperkeratosis Papule Abnormality of skin pigmentation Episodic fever Palmoplantar keratoderma Nevus Abnormal blistering of the skin Psychosis Thickened skin Abnormality of the hair Abnormality of the nail Schizophrenia Premature loss of teeth Impaired pain sensation Macule Poor fine motor coordination Involuntary movements Partial agenesis of the corpus callosum Abnormality of movement Specific learning disability Situs inversus totalis Hypogonadotrophic hypogonadism Cerebral palsy Fused cervical vertebrae Abnormality of the corticospinal tract Prematurely aged appearance Dysgenesis of the hippocampus Abnormality of the dentition Malar flattening Immunodeficiency Deeply set eye Sensory neuropathy Keratitis Osteomyelitis Hypermelanotic macule Skin vesicle Frequent falls Autistic behavior Hypertelorism Abnormal facial shape Ptosis Low-set ears Intrauterine growth retardation Upslanted palpebral fissure Autism Thin upper lip vermilion Wide mouth Hypocholesterolemia Smooth philtrum Unsteady gait Falls Wide nose Everted lower lip vermilion Broad nasal tip Prominent nose Intention tremor Decreased LDL cholesterol concentration Immune dysregulation Fragile skin Plantar pits Aniridia Bipolar affective disorder Fragile nails Ridged nail Bone cyst Fractures of the long bones Palmar pits Acrokeratosis Enlargement of parotid gland Blepharitis Anal mucosal leukoplakia Subungual hyperkeratotic fragments Failure to thrive Cataract Delayed skeletal maturation Congenital cataract Delayed puberty Inflammatory abnormality of the skin Erythroderma Increased muscle lipid content



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