Generalized hypotonia, and Alopecia

Diseases related with Generalized hypotonia and Alopecia

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Alopecia that can help you solving undiagnosed cases.


Top matches:

Medium match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Medium match ALG6-CDG


ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7


Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

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Other less relevant matches:

Medium match MOGS-CDG


MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Medium match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Medium match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Medium match BIOTINIDASE DEFICIENCY


Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Medium match VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A


Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match 17Q11.2 MICRODUPLICATION SYNDROME


17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Alopecia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Generalized hypotonia and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lethargy Abnormal facial shape Hearing impairment Cerebral atrophy Hepatomegaly Spasticity Microcephaly Strabismus Failure to thrive Ataxia Skin rash Hypoventilation Thrombocytopenia Hypertonia Vomiting Sensorineural hearing impairment Recurrent infections Feeding difficulties Macrocephaly Feeding difficulties in infancy Irritability Optic atrophy Organic aciduria Delayed speech and language development Metabolic acidosis Coma Acidosis Hyperammonemia

Rare Symptoms - Less than 30% cases


Progressive spastic paraplegia Autism Splenomegaly Encephalopathy Absent speech Developmental regression Spastic paraplegia Paraplegia Tetraplegia Spastic tetraplegia Progressive neurologic deterioration Seborrheic dermatitis Diffuse cerebral atrophy Short stature Basal ganglia calcification Neoplasm Micrognathia Thin upper lip vermilion Large hands Scoliosis Hypoplasia of dental enamel Diarrhea High palate Ventriculomegaly Motor delay Pectus excavatum Hypotrichosis Recurrent fractures Hyperreflexia Cognitive impairment Myopia Weight loss Hepatic failure Lactic acidosis Aciduria Inflammatory abnormality of the skin Tachypnea Hyperventilation Keratoconjunctivitis Desquamation of skin soon after birth Perioral eczema Edema Intellectual disability, severe Hypoglycemia Muscular hypotonia of the trunk Hypermetropia Agenesis of corpus callosum Alopecia of scalp Aggressive behavior Metaphyseal irregularity Micropenis Smooth philtrum Mandibular prognathia Rickets Alopecia totalis Macrotia Alopecia universalis Deeply set eye Generalized aminoaciduria Difficulty standing Upslanted palpebral fissure Elevated alkaline phosphatase Hypocalcemic seizures Intellectual disability, moderate Aminoaciduria Enlargement of the wrists Protruding ear Widely patent fontanelles and sutures Camptodactyly of finger Prominent nasal bridge Hypocalcemia Flat occiput Babinski sign Secondary hyperparathyroidism Sparse bone trabeculae Delayed epiphyseal ossification Increased serum 1,25-dihydroxyvitamin D3 Deformed rib cage Bulging of the costochondral junction Premature loss of teeth Protuberant abdomen Subperiosteal bone resorption Osteomalacia Hyperparathyroidism Tibial bowing Cryptorchidism Abdominal wall muscle weakness Femoral bowing Enlargement of the ankles Elevated circulating parathyroid hormone level Bulging epiphyses Fibular bowing Brachydactyly Hypophosphatemia Bowing of the legs Talipes equinovarus Thin bony cortex Clinodactyly Poor speech Furrowed tongue Falls Broad neck Attention deficit hyperactivity disorder Facial asymmetry Joint hyperflexibility Joint hypermobility Thin vermilion border Specific learning disability Overgrowth Tall stature Cafe-au-lait spot Sparse and thin eyebrow Abnormality of dental enamel Sparse eyelashes Neurofibromas Macroorchidism Pes cavus Long foot Bone cyst Bifid nose Thick nasal alae Overbite Lisch nodules Axillary freckling Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Deviated nasal septum Plexiform neurofibroma Focal T2 hyperintense basal ganglia lesion Coarse facial features Abnormal heart morphology Short palm Distal lower limb amyotrophy Short distal phalanx of finger High, narrow palate Short foot Tapered finger Hypoplasia of the maxilla Decreased testicular size Interphalangeal joint contracture of finger Decreased body weight Intellectual disability, progressive Lower limb hyperreflexia Multiple cafe-au-lait spots Restlessness Facial hypotonia Shuffling gait Abnormality of cardiovascular system morphology Diastema Alopecia areata Lower limb hypertonia Spinal neurofibromas Low frustration tolerance Small forehead Talipes calcaneovarus Hypertelorism Ptosis Low-set ears Abnormality of the skeletal system Intellectual disability, mild Malar flattening Bone pain Ketonuria Abnormality of the skin Abnormality of metabolism/homeostasis Tetraparesis Lower limb spasticity Progressive microcephaly Vasculitis Spastic tetraparesis Toe walking Increased antibody level in blood Pericardial effusion Atopic dermatitis Serositis Chilblains Hypoplasia of the corpus callosum Constipation Brain atrophy Retrognathia Blepharophimosis Wide nose Decreased antibody level in blood Short palpebral fissure Long eyelashes Prominent occiput Thoracic scoliosis Chronic constipation Overlapping fingers Generalized edema Hand clenching Nystagmus Nephrotic syndrome Lymphadenopathy Microphthalmia Cerebral visual impairment Respiratory distress Nausea and vomiting Eczema Anorexia Congenital lactic acidosis Dysarthria Tremor Blindness Areflexia Dysmetria Intention tremor Broad-based gait Abnormal intestine morphology Abnormality of eye movement Polycystic ovaries Partial agenesis of the corpus callosum Hyperinsulinemic hypoglycemia Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Increased serum testosterone level Reduced antithrombin III activity Reduced factor XI activity Elevated serum transaminases during infections Intrauterine growth retardation Dystonia Abnormality of the cerebral white matter Fever Pneumonia Delayed eruption of teeth Infantile spasms Muscle weakness Visual loss Abnormality of the nervous system Apnea Abnormal cerebellum morphology Generalized myoclonic seizures High myopia Conjunctivitis Recurrent skin infections Urticaria Stridor Visual field defect Bronchitis Propionyl-CoA carboxylase deficiency Iris hypopigmentation Alcoholism Recurrent fungal infections Diffuse cerebellar atrophy Laryngeal stridor Metabolic ketoacidosis Decreased biotinidase activity Depressed nasal bridge Epicanthus Frontal bossing Difficulty walking Papule Carious teeth Acute hyperammonemia Necrotizing encephalopathy Hyperactivity Skeletal muscle atrophy Autistic behavior Coloboma Iris coloboma Febrile seizures Aspiration Leukopenia Delayed gross motor development Breast carcinoma Aspiration pneumonia Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Fatigue Encephalomalacia Myopathy Congestive heart failure Dilatation Depressivity Elevated hepatic transaminase Hepatic steatosis Cyanosis Dehydration Opisthotonus Ketoacidosis Decreased plasma carnitine Hyperglycinuria Neutrophilia Inguinal freckling



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